Study Recurrency Testing of Mutations Identified in WGS of Pediatric Rhabdomyosarcoma
- To obtain a larger cohort of rhabdomyosarcoma samples (alveolar and embryonal) to
establish a more accurate estimate of the frequency of particular genetic lesions.
- To provide the statistical power to establish an unambiguous connection between focal
genetic lesions, histological subtype, and outcome for patients with rhabdomyosarcoma.
OUTLINE: DNA samples are analyzed in solid and liquid phase for exons of all genes mutated
from previous discovery. DNA is then eluted and sequenced by illumina platform.
Frequency of particular genetic lesions
Alberto S. Pappo, MD
St. Jude Children's Research Hospital
United States: Federal Government